广西师范大学学报（自然科学版）2017，Vol.35Issue(4)：122-126,5.DOI:10.16088/j.issn.1001-6600.2017.04.017
L MN A突变介导细胞核结构与功能异常
LMNA Mutation Result in the Structural and Functional Abnormal of Nuclear Envelope
摘要
Abstract
Nuclear envelope proteins syndrome is an umbrella term of a series of human diseases induced by kinds of nuclear envelope structural proteins (lamins,SUNs,emerin,etc.)gene mutations,such as progeria.Due to the maj ority of mutations found in LMNA gene, these diseases are also named laminopathies,but their pathogenesis is still unclear.So the lamin A gene mutation C1294T was taken as a candidate to study the effect of gene mutations on the structure and function of cell nucleus and on the localization and function of related chromatin and nuclear membrane proteins.The research results showed that the LMNA mutation affected the integrity of structure and function of nuclear envelope, even resulted in the nuclear envelope wrinkle and shaped vesicles.In addition,the mutation had a certain inhibiting effect on the localization of chromatin in cell nucleus and the uneven distribution of chromosome in the nucleus.In conclusion,the LMNA mutation might affect the normal structure and function of nuclear envelope,and could further induce related diseases.关键词
核纤层蛋白/LMNA/核纤层蛋白病/染色质Key words
lamin A/LMNA/laminopathies/chromatin分类
医药卫生引用本文复制引用
马玉清,吴卓玲,霍民瑶,杨柳..L MN A突变介导细胞核结构与功能异常[J].广西师范大学学报（自然科学版）,2017,35(4):122-126,5.基金项目
国家自然科学基金(31560319 ) （31560319 ）
广西师范大学大学生创新创业训练计划项目(201510602004, 201710602239) （201510602004, 201710602239）
广西"八桂学者资助项目"(2013A003) （2013A003）
